perinatal lethal hypophosphatasia https://github.com/monarch-initiative/mondo/issues/5507 https://github.com/monarch-initiative/mondo/issues/5811 UMLS:C2673477 HPPN MONDO:0016605 perinatal lethal Rathburn disease Orphanet:247623 A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth. perinatal lethal phosphoethanolaminuria MEDGEN:392928 GARD:0017191 ALPL-related autosomal recessive hypophosphatasia